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step 1 immunology > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

X-linked (Bruton) Agammaglobulinemia: defect?

A

B cell disorder.

X-linked defect in BTK that prevents B-cell maturation

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2
Q

B cell disorder.

X-linked defect in BTK that prevents B-cell maturation

A

X-linked (Bruton) Agammaglobulinemia: defect?

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3
Q

X-linked (Bruton) Agammaglobulinemia: presentation?

A

B cell disorder.

Recurrent bacterial and enteroviral infections after 6 months, when maternal IgG dissipates

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4
Q

B cell disorder.

Recurrent bacterial and enteroviral infections after 6 months, when maternal IgG dissipates

A

X-linked (Bruton) Agammaglobulinemia: presentation?

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5
Q

X-linked (Bruton) Agammaglobulinemia: findings?

A

1) No B cells in peripheral blood
2) Low Ig of all classes
3) Atrophic/absent lymph nodes and tonsils

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6
Q

1) No B cells in peripheral blood
2) Low Ig of all classes
3) Atrophic/absent lymph nodes and tonsils

A

X-linked (Bruton) Agammaglobulinemia: findings?

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7
Q

Selective IgA deficiency: defect?

A

B cell disorder.

Unknown cause, most common primary immunodeficiency

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8
Q

B cell disorder.

Unknown cause, most common primary immunodeficiency

A

Selective IgA deficiency: defect?

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9
Q

Selective IgA deficiency: presentation?

A

1) Majority asymptomatic
2) Anaphylaxis to IgA blood products
3) Airway and GI infections
4) Autoimmune disorders
5) Atopy

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10
Q

1) Majority asymptomatic
2) Anaphylaxis to IgA blood products
3) Airway and GI infections
4) Autoimmune disorders
5) Atopy

A

Selective IgA deficiency: presentation?

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11
Q

Selective IgA deficiency: findings?

A

Decreased IgA with normal IgG and IgM

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12
Q

Decreased IgA with normal IgG and IgM

A

Selective IgA deficiency: findings?

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13
Q

Common variable immunodeficiency: defect?

A

B cell disorder

Defect in B-cell differentiation with many causes.

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14
Q

B cell disorder

Defect in B-cell differentiation with many causes.

A

Common variable immunodeficiency: defect?

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15
Q

Common variable immunodeficiency: presentation?

A

1) Can be acquired in 20’s and 30’s
2) Increased risk of autoimmune disease
3) Increased risk of sinopulmonary infx and bronchectasis
4) Lymphoma

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16
Q

1) Can be acquired in 20’s and 30’s
2) Increased risk of autoimmune disease
3) Increased risk of sinopulmonary infx and bronchectasis
4) Lymphoma

A

Common variable immunodeficiency: presentation?

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17
Q

DiGeorge Syndrome: defect?

A

T-cell disorder

1) 22q11 deletion
2) Failure of 3rd and 4th pharyngeal pouch development
3) Absent thymus and parathryoids

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18
Q

T-cell disorder

1) 22q11 deletion
2) Failure of 3rd and 4th pharyngeal pouch development
3) Absent thymus and parathryoids

A

DiGeorge Syndrome: defect?

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19
Q

DiGeorge Syndrome: presentation?

A

1) Recurrent viral and fungal infections
2) Cyanotic heart defects
3) Hypocalcemia -> tetany

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20
Q

1) Recurrent viral and fungal infections
2) Cyanotic heart defects
3) Hypocalcemia -> tetany

A

DiGeorge Syndrome: presentation?

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21
Q

DiGeorge Syndrome: findings?

A

1) Low T-cells, PTH and calcium
2) Absent thymic shadow on CXR
3) 22q11 deletion on FISH

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22
Q

1) Low T-cells, PTH and calcium
2) Absent thymic shadow on CXR
3) 22q11 deletion on FISH

A

DiGeorge Syndrome: findings?

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23
Q

IL-12 receptor deficiency: defect?

A

Autosomal recessive Th1 deficiency

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24
Q

Autosomal recessive Th1 deficiency

A

IL-12 receptor deficiency: defect?

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25
Q

IL-12 receptor deficiency: presentation?

A

1) Disseminated mycobacterial and fungal infx

2) May present after BCG vaccination

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26
Q

1) Disseminated mycobacterial and fungal infx

2) May present after BCG vaccination

A

IL-12 receptor deficiency: presentation?

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27
Q

IL-12 receptor deficiency: findings?

A

Decreased IFN-γ

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28
Q

Autosomal dominant Hyper-IgE Syndrome: defect?

A

1) STAT3 mutation
2) Deficient Th17 differentiation
3) Impaired recruitment of PMNs to infected site

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29
Q

1) STAT3 mutation
2) Deficient Th17 differentiation
3) Impaired recruitment of PMNs to infected site

A

Autosomal dominant Hyper-IgE Syndrome: defect?

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30
Q

Autosomal dominant Hyper-IgE Syndrome: presentation?

A

1) coarse Facies
2) cold staph Abscesses
3) retention of baby Teeth
4) Increased IgE
5) Dermatologic problems (eczema)

“Job was FATED”

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31
Q

1) coarse Facies
2) cold staph Abscesses
3) retention of baby Teeth
4) Increased IgE
5) Dermatologic problems (eczema)

A

Autosomal dominant Hyper-IgE Syndrome: presentation?

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32
Q

Autosomal dominant Hyper-IgE Syndrome: findings?

A

1) Increased IgE

2) Decreased IFN-γ

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33
Q

1) Increased IgE

2) Decreased IFN-γ

A

Autosomal dominant Hyper-IgE Syndrome: findings?

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34
Q

Chronic mucocutaneous candidiasis: defect?

A

T-cell disfunction with many causes

35
Q

Chronic mucocutaneous candidiasis: presentation?

A

Non-invasive Candida infx of skin and mucous membranes

36
Q

Chronic mucocutaneous candidiasis: Findings?

A

1) T-cells do not proliferate in response to Candida antigens
2) No cutaneous reaction to Candida antigens

37
Q

1) T-cells do not proliferate in response to Candida antigens
2) No cutaneous reaction to Candida antigens

A

Chronic mucocutaneous candidiasis: Findings?

38
Q

Severe combined immunodeficiency (SCID): 2 most common defects?

A

B and T cell disorder

1) X-linked: defective IL-2R gamma chain -> no functioning IL receptors on T, B and NK cells
2) Autosomal recessive: adenosine deaminase deficiency-> downstream dNTP synthesis inhibition-> inhibited lymphocyte proliferation

39
Q

B and T cell disorder

1) X-linked: defective IL-2R gamma chain -> no functioning IL receptors on T, B and NK cells
2) Autosomal recessive: adenosine deaminase deficiency-> downstream dNTP synthesis inhibition-> inhibited lymphocyte proliferation

A

Severe combined immunodeficiency (SCID): 2 most common defects?

40
Q

Severe combined immunodeficiency (SCID): presentation?

A

1) Recurrent viral, bacterial, fungal, and protozoal infx
2) Failure to thrive
3) Chronic diarrhea and thrush

41
Q

1) Recurrent viral, bacterial, fungal, and protozoal infx
2) Failure to thrive
3) Chronic diarrhea and thrush

A

Severe combined immunodeficiency (SCID): presentation?

42
Q

SCID Treatment

A

Bone marrow transplant (no concern for rejection)

43
Q

SCID findings?

A

1) Decreased T cell Receptor Excision Circles (TRECs)
2) Absence of thymic shadow on CXR
3) Absence on LN germinal centers on biopsy
4) Absence of T cells on flow cytometry

44
Q

1) Decreased T cell Receptor Excision Circles (TRECs)
2) Absence of thymic shadow on CXR
3) Absence on LN germinal centers on biopsy
4) Absence of T cells on flow cytometry

A

SCID findings?

45
Q

Ataxia-telangiectasia: defect?

A

B cell and T cell defect

1) Defect in ATM gene
2) no dsDNA break repair
3) Arrest of cell cycle

46
Q

B cell and T cell defect

1) Defect in ATM gene
2) no dsDNA break repair
3) Arrest of cell cycle

A

Ataxia-telangiectasia: defect?

47
Q

Ataxia-telangiectasia: presentation?

A

Triad (A’s):

1) Ataxia (cerebellar defects)
2) spider Angiomas
3) IgA deficiency

48
Q

1) Ataxia (cerebellar defects)
2) spider Angiomas
3) IgA deficiency

A

Ataxia-telangiectasia: presentation?

49
Q

Ataxia-telangiectasia: findings?

A

1) Increased Alpha Fetal Protein (AFP)
2) Decreased IgA, IgG, IgE
3) Lymphopenia
4) Cerebella atrophy

50
Q

1) Increased Alpha Fetal Protein (AFP)
2) Decreased IgA, IgG, IgE
3) Lymphopenia
4) Cerebella atrophy

A

Ataxia-telangiectasia: findings?

51
Q

Hyper-IgM syndrome: defect?

A

X-linked recessive: defective Th cell CD40L-> B cell class switching defect

52
Q

X-linked recessive: defective Th cell CD40L-> B cell class switching defect

A

Hyper-IgM syndrome: defect?

53
Q

Hyper-IgM syndrome: presentation?

A

1) Severe pyogenic infections early in life

2) Opportunistic Pneumocystis, Cryptosporidium and CMV infx

54
Q

1) Severe pyogenic infections early in life

2) Opportunistic Pneumocystis, Cryptosporidium and CMV infx

A

Hyper-IgM syndrome: presentation?

55
Q

Hyper-IgM syndrome: Findings?

A

1) Normal or elevated IgM

2) Extremely low IgG, IgA, IgE

56
Q

1) Normal or elevated IgM

2) Extremely low IgG, IgA, IgE

A

Hyper-IgM syndrome: Findings?

57
Q

Wiskott-Aldritch syndrome: defect?

A

T cell and B cell disorder

X-linked recessive: WAS gene mutation-> T cells unable to reorganize actin cytoskeleton

58
Q

X-linked recessive: WAS gene mutation-> T cells unable to reorganize actin cytoskeleton

A

Wiskott-Aldritch syndrome: defect?

59
Q

Wiskott-Aldritch syndrome: presentation?

A

“WATER”

1) Wiskott Aldritch
2) Thrombocytopenia
3) Eczema
4) Recurrent infections

5) Increased risk of autoimmunity and malignancy

60
Q

1) Thrombocytopenia
2) Eczema
3) Recurrent infections
4) Increased risk of autoimmunity and malignancy

A

Wiskott-Aldritch syndrome: presentation?

61
Q

Wiskott-Aldritch syndrome: findings?

A

1) Low to normal IgG, IgM
2) Elevated IgE, IgA
3) Fewer and smaller platelets

62
Q

1) Low to normal IgG, IgM
2) Elevated IgE, IgA
3) Fewer and smaller platelets

A

Wiskott-Aldritch syndrome: findings?

63
Q

Leukocyte adhesion deficiency T1: defect?

A

Autosomal recessive: Defect in CD18 integrin on phagocytes, causing impaired migration and chemotaxis

64
Q

Autosomal recessive: Defect in CD18 integrin on phagocytes, causing impaired migration and chemotaxis

A

Leukocyte adhesion deficiency T1: defect?

65
Q

Leukocyte adhesion deficiency T1: presentation?

A

1) Delayed separation of umbilical cord (>30 days)
2) Recurrent bacterial skin and mucosal infections
3) Absent pus formation
4) Impaired wound healing

66
Q

1) Delayed separation of umbilical cord (>30 days)
2) Recurrent bacterial skin and mucosal infections
3) Absent pus formation
4) Impaired wound healing

A

Leukocyte adhesion deficiency T1: presentation?

67
Q

Leukocyte adhesion deficiency T1: findings?

A

1) Increased PMN count

2) No PMNs at infx site

68
Q

1) Increased PMN count

2) No PMNs at infx site

A

Leukocyte adhesion deficiency T1: findings?

69
Q

Chediak-Higashi syndrome: defect

A

Autosomal recessive: defect in LYST lysosomal trafficking regulator, causing decreased phagosome-lysosome fusion

70
Q

Autosomal recessive: defect in LYST lysosomal trafficking regulator, causing decreased phagosome-lysosome fusion

A

Chediak-Higashi syndrome: defect

71
Q

Chediak-Higashi syndrome: presentation

A

1) Partial albinism
2) Recurrent pyogenic staph and strep infx
3) Infiltrative lymphohystiocytosis
4) Peripheral neuropathy and progressive neurodegeneration

72
Q

1) Partial albinism
2) Recurrent pyogenic staph and strep infx
3) Infiltrative lymphohystiocytosis
4) Peripheral neuropathy and progressive neurodegeneration

A

Chediak-Higashi syndrome: presentation

73
Q

Chediak-Higashi syndrome: findings

A

1) Giant granules in granulocytes and PLTs
2) Pancytopenia
3) Mild coagulation defects

74
Q

1) Giant granules in granulocytes and PLTs
2) Pancytopenia
3) Mild coagulation defects

A

Chediak-Higashi syndrome: findings

75
Q

Chronic granulomatous disease: defect

A

X-linked recessive: NADPH oxidase defect -> impaired PMN respiratory burst

76
Q

X-linked recessive: NADPH oxidase defect -> impaired PMN respiratory burst

A

Chronic granulomatous disease: defect

77
Q

Chronic granulomatous disease: presentation

A

Recurrent catalase + infections:

1) Nocardia
2) Pseudomonas
3) Listeria
4) Aspergillus
5) Candida
6) E. Coli
7) Staph
8) Serratia
9) B cepacia
10) H pylori

“Cats Need PLACESS to Belch Hairballs”

78
Q

Recurrent catalase + infections

A

Chronic granulomatous disease: presentation

79
Q

Chronic granulomatous disease: findings

A

1) Decreased green flourescence dihydrorhodamine (flow cytometry) test
2) Nitroblue dye reduction test (obsolete)

80
Q

1) Decreased green flourescence dihydrorhodamine (flow cytometry) test
2) Nitroblue dye reduction test (obsolete)

A

Chronic granulomatous disease: findings

81
Q

General susceptibility in T cell deficiency

A

Fungal (esp. local Candidiasis and PCP)
Viral (esp. CMV, EBV, JCV, VZV, chronic respiratory/GI infx)

Sepsis

82
Q

General susceptibility in B cell deficiency

A

Encapsulated bacteria:

1) Pseudomonas
2) Strep pneumo
3) H. Influenzae type B
4) Neisseria meningitides
5) E. Coli
6) Salmonella
7) Klebsiella
8) Strep (group B)

“Please SHINE my SKiS”

GI giardiasis (no IgA)

83
Q

General susceptibility in granulocyte deficiency

A

Fungal (Systemic Candidiasis, Aspergillus)

Bacterial

84
Q

General susceptibility in complement deficiency

A

Early component deficiencies: encapsulated bacteria

MAC deficiencies: Neisseria

step 1 immunology (13 decks)

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